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Androgen-insensitivity syndrome
A familial form of pseudohermaphroditism transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (androgen receptors; AR) gene. Severity of the defect in AR quantity or quality correlates with their phenotypes. The phenotype spectrum varies from those with normal female external genitalia in androgen-insensitivity syndrome, through those with genital ambiguity in Reifenstein Syndrome, to that of a normal male with infertility.
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